2018
Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome
Guemez‐Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy‐Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson‐Omay E, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas‐Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben‐Zeev B, Gunel M, Gleeson JG. Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome. Annals Of Neurology 2018, 84: 638-647. PMID: 30178464, PMCID: PMC6510237, DOI: 10.1002/ana.25327.Peer-Reviewed Original ResearchConceptsBrainstem malformationDysplasia syndromeEndothelial cellsBiallelic mutationsAutosomal recessive malformationSuch pathogenic variantsCharacteristic clinical presentationPatient-derived induced pluripotent stem cellsWhite matter tractsAnn NeurolAppendicular spasticityBrain calcificationClinical presentationPoor outcomeAxial hypotoniaPsychomotor disabilityProgressive microcephalyTract defectsPathogenic variantsPhenotypic spectrumPatientsCraniofacial dysmorphismBrain imagingNeural precursorsProtein expression
2015
Mutation in <i>GM2A</i> Leads to a Progressive Chorea-dementia Syndrome
Salih M, Seidahmed M, Khashab H, Hamad M, Bosley T, Burn S, Myers A, Landsverk M, Crotwell P, Bilguvar K, Mane S, Kruer M. Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome. Tremor And Other Hyperkinetic Movements 2015, 5: 306. DOI: 10.5334/tohm.246.Peer-Reviewed Original ResearchMacular cherry-red spotsChildhood-onset choreaCherry-red spotWhole-exome sequencingMacular findingsProgressive choreaIntractable seizuresHomozygous missense mutationNeurodegenerative courseProfound hypotoniaRare formVolitional movementPhenotypic spectrumChoreaExome sequencingGM2 gangliosidosisHyperacusisPatientsSaudi familyNeurodegenerative disease genesMissense mutationsGangliosidosisHomozygosity mappingVariant phenotypesMutations